Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.A621D
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KIT

NM_000222.3:p.A621D

Associated Papers

KIT-related piebaldism in a Chinese girl.

Zhu L et al.

American Journal of Medical Genetics. Part A, 2020

A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family.

Yang YJ et al.

Biomed Research International, 2013

New mutations of KIT gene in two Chinese patients with piebaldism.

Lin ZM et al.

The British Journal of Dermatology, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."